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目的探讨雌激素受体α(ERα)基因外显子1编码子10单核苷酸遗传多态性(SNP)与尿道下裂及隐睾症发生的相关性。方法应用聚合酶链反应(PCR)分析的方法分别对70例尿道下裂患者、31例隐睾症患者和40例健康男性对照者基因组DNA进行ERα基因外显子1编码子10单核苷酸多态性基因检测并分型。结果尿道下裂组与正常对照组ERα基因编码子10基因型频率分布比较,差异具有统计学意义(P<0.05),两组等位基因频率分布的差异也具有统计学意义(P<0.05),变异型等位基因C频率显著升高,其OR值为1.911,95%CI为1.085～3.367。隐睾症患者与正常对照者ERα基因编码子10基因型频率分布比较,差异具有统计学意义(P<0.05),两组等位基因频率分布比较,差异具有统计学意义(P<0.05),变异型等位基因C频率显著升高,其OR值为2.407,95%CI为1.219～4.754。结论 ERα基因外显子1编码子10单核苷酸遗传多态性可能与尿道下裂和隐睾症的发生有关,变异型等位基因C可能是尿道下裂和隐睾症发生的危险因素。
Objective To investigate the relationship between the single nucleotide polymorphism (SNP) of exon 1 of estrogen receptor α (ERα) gene and hypospadias and cryptorchidism. Methods The genomic DNA of 70 cases of hypospadias, 31 cases of cryptorchidism and 40 healthy controls were analyzed by polymerase chain reaction (PCR). The genomic DNAs of exon 1 of ERα gene encoding 10 single nucleotide Polymorphism gene detection and typing. Results The frequencies of ERα gene codon 10 genotype in hypospadia group and normal control group were significantly different (P <0.05), and the difference of allele frequency distribution between the two groups was also statistically significant (P0.05) . The frequency of allele C was significantly increased, with an OR of 1.911 and a 95% CI of 1.085 to 3.367. The frequency distribution of ERα gene coding 10 genotype in patients with cryptorchidism was significantly higher than that in normal controls (P <0.05). There was significant difference in allele frequency distribution between two groups (P <0.05) The frequency of variant allele C was significantly increased, with an OR of 2.407 and a 95% CI of 1.219 to 4.754. Conclusions Single nucleotide polymorphisms in exon 1 of ERα gene may be related to hypospadias and cryptorchidism. Mutant allele C may be a risk factor for hypospadias and cryptorchidism .